CNS5:Diffuse hemispheric glioma, H3 G34-mutant: Difference between revisions
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==Sites of Involvement== | ==Sites of Involvement== | ||
* Usually involves cerebral hemispheres | *Usually involves cerebral hemispheres | ||
* Occasionally across the midline and disseminate to leptomeningeal structures. | *Occasionally across the midline and disseminate to leptomeningeal structures. | ||
* MRI typically shows a bulky cortical mass, most commonly seen in the parietal or temporal lobe. Multifocal lesions and/or leptomeningeal dissemination can be seen along with necrosis, cysts, hemorrhage and calcification <ref>{{Cite journal|last=Vettermann|first=Franziska J.|last2=Felsberg|first2=Jörg|last3=Reifenberger|first3=Guido|last4=Hasselblatt|first4=Martin|last5=Forbrig|first5=Robert|last6=Berding|first6=Georg|last7=la Fougère|first7=Christian|last8=Galldiks|first8=Norbert|last9=Schittenhelm|first9=Jens|date=2018-12|title=Characterization of Diffuse Gliomas With Histone H3-G34 Mutation by MRI and Dynamic 18F-FET PET|url=https://pubmed.ncbi.nlm.nih.gov/30358620|journal=Clinical Nuclear Medicine|volume=43|issue=12|pages=895–898|doi=10.1097/RLU.0000000000002300|issn=1536-0229|pmid=30358620}}</ref>. | *MRI typically shows a bulky cortical mass, most commonly seen in the parietal or temporal lobe. Multifocal lesions and/or leptomeningeal dissemination can be seen along with necrosis, cysts, hemorrhage and calcification <ref>{{Cite journal|last=Vettermann|first=Franziska J.|last2=Felsberg|first2=Jörg|last3=Reifenberger|first3=Guido|last4=Hasselblatt|first4=Martin|last5=Forbrig|first5=Robert|last6=Berding|first6=Georg|last7=la Fougère|first7=Christian|last8=Galldiks|first8=Norbert|last9=Schittenhelm|first9=Jens|date=2018-12|title=Characterization of Diffuse Gliomas With Histone H3-G34 Mutation by MRI and Dynamic 18F-FET PET|url=https://pubmed.ncbi.nlm.nih.gov/30358620|journal=Clinical Nuclear Medicine|volume=43|issue=12|pages=895–898|doi=10.1097/RLU.0000000000002300|issn=1536-0229|pmid=30358620}}</ref>. | ||
==Morphologic Features== | ==Morphologic Features== | ||
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==Individual Region Genomic Gain/Loss/LOH== | ==Individual Region Genomic Gain/Loss/LOH== | ||
Oncogenic amplifications in G34-DHG have been shown to be negative prognostic markers, as documented below <ref name=":4" />. | |||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
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|Amp | |Amp | ||
|12:4,273,762-4,305,353 | |12:4,273,762-4,305,353 | ||
|12p13.32 | |12p13.32 | ||
|Unk | |Unk | ||
|Yes | |Yes | ||
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|Homoz del | |Homoz del | ||
|9:21,967,752-21,995,324 | |9:21,967,752-21,995,324 | ||
|9p21.3 | |9p21.3 | ||
|Unk | |Unk | ||
|Unk | |Unk | ||
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|N/A | |N/A | ||
|N/A | |N/A | ||
|Found in 70% of cases of G34-DHG <ref name=":5" /> | |Found in 70% of cases of G34-DHG <ref name=":5" /> | ||
|- | |- | ||
|3q loss | |3q loss | ||
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==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||
* Targeted sequencing to identify c.103G>A p.G35R (G34R), c.103G>C p.G35R (G34R), or c.104G>T p.G35V (G34V) is diagnostic for G34-DHG. | *Targeted sequencing to identify c.103G>A p.G35R (G34R), c.103G>C p.G35R (G34R), or c.104G>T p.G35V (G34V) is diagnostic for G34-DHG. | ||
* Pan-cancer sequencing will likely detect concurrent mutations in ''TP53, ATRX, PDGFRA'' etc. | *Pan-cancer sequencing will likely detect concurrent mutations in ''TP53, ATRX, PDGFRA'' etc. | ||
* DNA methylation and gene expression profiling can be used to differentiate G34-DHG with other glioma subgroups. | *DNA methylation and gene expression profiling can be used to differentiate G34-DHG with other glioma subgroups. | ||
* ''MGMT'' promoter methylation can be assessed by methylation specific polymerase chain reaction analysis (bisulfite treated DNA undergoes real-time PCR)<br /> | *''MGMT'' promoter methylation can be assessed by methylation specific polymerase chain reaction analysis (bisulfite treated DNA undergoes real-time PCR)<br /> | ||
==Familial Forms== | ==Familial Forms== | ||